rs78382485
Variant in the SH2B3 gene (SH2B Adaptor Protein 3)
rs78382485 is a single nucleotide polymorphism (SNP) in the SH2B3 gene, involved in cytokine signaling. Variants at this position have been studied in relation to immune function, metabolism, and chronic illness.
This page is for educational and informational purposes only. Not a diagnostic tool. Always consult a qualified healthcare provider.
What is the rs78382485 variant?
rs78382485 is a SNP (single nucleotide polymorphism) in the SH2B3 (SH2B Adaptor Protein 3) gene. It belongs to the Immune Signaling category and is part of the Immune System & Inflammation biological cluster. SH2B3 (LNK) is an adaptor protein that negatively regulates JAK2 and thrombopoietin receptor signaling. The rs3184504 variant is a well-established signal in GWAS for numerous immune and cardiovascular traits.
Biological role and pathway
This variant sits within the SH2B3 gene, which is involved in the cytokine signaling pathway. Genes within the Immune System & Inflammation cluster work together to maintain balanced function across interconnected biological systems.
Variants in genes within this pathway may influence an individual's predisposition to altered function — particularly under conditions of physiological stress such as viral infection or prolonged illness.
rs78382485 and Long COVID / ME-CFS research
SH2B3 rs3184504 is associated with celiac disease, hypothyroidism, type 1 diabetes, and clonal hematopoiesis risk. This pleiotropic immune regulatory variant may influence multiple aspects of Long COVID's multi-system dysfunction.
This information is based on published research and does not constitute medical advice. See references below.
Parent gene: SH2B3
rs78382485 is one of 2 known variants in the SH2B3 gene. To understand the full biological context of this variant, explore the parent gene page.
View SH2B3 gene page →Conditions studied in relation to rs78382485
Research into SH2B3 variants including rs78382485 has explored associations with the following conditions. These are areas of scientific investigation and do not imply causation.
Genetic insights from DNA data
Consumer DNA files from 23andMe, AncestryDNA, and MyHeritage contain raw SNP data. When you upload your file to ChronicDNA, the analysis engine checks your genotype against a curated panel of 80+ genes selected for their relevance to Long COVID, ME/CFS, and connected biological pathways - some of which may include SH2B3 and the rs78382485 variant.
The report is educational - it explains which variants you carry, what the research says about them, and how they fit into the biological pathways most relevant to chronic illness. Results are presented in plain English with appropriate scientific context, no medical jargon, no scare tactics. All results should be discussed with a qualified healthcare provider.
Other variants in the SH2B3 gene
The following variants in SH2B3 are also studied in relation to chronic illness and may be analysed together for a more complete picture.
Frequently asked questions
What is the rs78382485 variant in the SH2B3 gene?
rs78382485 is a single nucleotide polymorphism (SNP) located in the SH2B3 (SH2B Adaptor Protein 3) gene, which is involved in cytokine signaling. SH2B3 (LNK) is an adaptor protein that negatively regulates JAK2 and thrombopoietin receptor signaling. The rs3184504 variant is a well-established signal in GWAS for numerous immune and cardiovascular traits.
How may the rs78382485 variant relate to Long COVID or ME/CFS?
SH2B3 rs3184504 is associated with celiac disease, hypothyroidism, type 1 diabetes, and clonal hematopoiesis risk. This pleiotropic immune regulatory variant may influence multiple aspects of Long COVID's multi-system dysfunction.
Can a consumer DNA test detect the rs78382485 variant?
Many consumer DNA tests such as 23andMe, AncestryDNA, and MyHeritage genotype common SNPs. ChronicDNA analyses your raw DNA file and reports on variants studied in relation to chronic illness, immune function, and metabolism. This is not a diagnostic service — results are informational and educational only.
Find out if you carry the rs78382485 variant
Upload your DNA data from 23andMe, AncestryDNA, or MyHeritage and receive a personalised report covering >80 genes relevant to Long COVID and ME/CFS.
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References
The following publications were used in compiling the research context for SH2B3 and its variants. This is not an exhaustive literature review.
- [1]PMID: 23001122
- [2]Nature Genetics
- [3]Blood